MAN2A1
mannosidase alpha class 2A member 1
Summary
This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760278644 | 5:109,026,146 | T/G | — | uncertain significance |
| rs752431199 | 5:109,026,237 | A/G | — | uncertain significance |
| rs4388249 | 5:109,036,066 | C/T | upstream gene variant | — |
| rs375837315 | 5:109,049,225 | A/C | — | uncertain significance |
| rs199806462 | 5:109,049,233 | A/G | — | uncertain significance |
| rs1469074097 | 5:109,049,269 | C/G | — | uncertain significance |
| rs889470998 | 5:109,049,279 | A/G | — | uncertain significance |
| rs761478729 | 5:109,049,375 | G/A | — | uncertain significance |
| rs2531832887 | 5:109,049,431 | T/C | — | uncertain significance |
| rs12657204 | 5:109,049,507 | C/G | intron variant | — |
| rs778455569 | 5:109,051,828 | A/G | — | uncertain significance |
| rs1207106604 | 5:109,051,944 | C/A | — | uncertain significance |
| rs1438660 | 5:109,058,594 | A/C | — | — |
| rs777129526 | 5:109,065,102 | A/G | — | uncertain significance |
| rs199552271 | 5:109,065,180 | A/G | — | uncertain significance |
| rs757348270 | 5:109,065,190 | T/C | — | uncertain significance |
| rs370312687 | 5:109,091,117 | T/A | — | uncertain significance |
| rs994212827 | 5:109,103,254 | G/C | — | uncertain significance |
| rs1330039628 | 5:109,103,340 | G/A | — | uncertain significance |
| rs146882808 | 5:109,103,349 | G/A | — | uncertain significance |
| rs747939011 | 5:109,106,085 | C/T | — | uncertain significance |
| rs150646560 | 5:109,106,206 | C/G | — | uncertain significance |
| rs778864343 | 5:109,106,217 | A/G | — | uncertain significance |
| rs371130776 | 5:109,110,494 | G/A | — | likely benign |
| rs767211918 | 5:109,110,515 | G/T | — | uncertain significance |
| rs139853677 | 5:109,110,578 | A/T | — | uncertain significance |
| rs763665009 | 5:109,110,602 | T/C | — | uncertain significance |
| rs2531476626 | 5:109,110,649 | T/A | — | uncertain significance |
| rs1753453996 | 5:109,117,160 | G/C | — | uncertain significance |
| rs754216087 | 5:109,117,269 | G/A | — | uncertain significance |
| rs140849565 | 5:109,120,497 | A/G | — | uncertain significance |
| rs201685100 | 5:109,120,500 | A/G | — | uncertain significance |
| rs369771547 | 5:109,124,671 | T/G | — | uncertain significance |
| rs2301015 | 5:109,143,386 | C/T | intron variant | — |
| rs2015698 | 5:109,145,646 | T/G | intron variant | — |
| rs750284627 | 5:109,152,981 | G/C | — | uncertain significance |
| rs758502241 | 5:109,152,997 | T/C | — | likely benign |
| rs772932828 | 5:109,153,042 | C/T | — | uncertain significance |
| rs756518152 | 5:109,153,069 | G/C | — | uncertain significance |
| rs371647705 | 5:109,153,078 | T/C | — | uncertain significance |
| rs1314879716 | 5:109,153,101 | T/G | — | uncertain significance |
| rs6881643 | 5:109,154,384 | A/G | intron variant | — |
| rs371840953 | 5:109,155,380 | G/A | — | uncertain significance |
| rs139062772 | 5:109,155,392 | C/T | — | uncertain significance |
| rs369776819 | 5:109,155,413 | A/G | — | uncertain significance |
| rs369868516 | 5:109,155,490 | G/A | — | uncertain significance |
| rs758644789 | 5:109,155,532 | A/G | — | uncertain significance |
| rs2531564453 | 5:109,155,546 | C/A | — | uncertain significance |
| rs1242963629 | 5:109,155,548 | C/G | — | uncertain significance |
| rs370130950 | 5:109,155,563 | G/A | — | uncertain significance |
| rs760261940 | 5:109,156,003 | A/G | — | uncertain significance |
| rs17489649 | 5:109,156,184 | A/G | intron variant | — |
| rs1754689224 | 5:109,159,471 | G/T | — | uncertain significance |
| rs779427574 | 5:109,159,503 | A/G | — | uncertain significance |
| rs1306027212 | 5:109,159,532 | A/G | — | likely benign |
| rs3797677 | 5:109,178,020 | T/A | — | benign |
| rs140395337 | 5:109,178,098 | C/T | — | uncertain significance |
| rs1487433427 | 5:109,181,589 | C/A | — | uncertain significance |
| rs746984569 | 5:109,181,596 | C/A | — | uncertain significance |
| rs768940887 | 5:109,181,615 | A/G | — | uncertain significance |
| rs199779388 | 5:109,181,636 | A/G | — | uncertain significance |
| rs1755333389 | 5:109,181,638 | A/C | — | uncertain significance |
| rs138853184 | 5:109,181,648 | C/T | — | uncertain significance |
| rs755214795 | 5:109,181,684 | T/C | — | uncertain significance |
| rs748431015 | 5:109,181,693 | C/T | — | uncertain significance |
| rs11241041 | 5:109,183,341 | G/C | intron variant | — |
| rs3776932 | 5:109,185,988 | T/G | intron variant | — |
| rs747770970 | 5:109,190,922 | A/G | — | uncertain significance |
| rs1246072934 | 5:109,190,952 | G/C | — | likely benign |
| rs376207094 | 5:109,190,962 | G/A | — | uncertain significance |
| rs146360227 | 5:109,191,026 | A/G | — | uncertain significance |
| rs367746696 | 5:109,200,744 | A/G | — | likely benign |
| rs754873050 | 5:109,202,628 | G/A | — | uncertain significance |
| rs767708370 | 5:109,202,687 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.